Canonical Allele Identifier: CA500144582

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868232
• ClinVar RCV Id: RCV001077093
• dbSNP Id: rs80356844
• MyVariant Identifiers: chr17:g.41209090T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057073T>A , CM000679.2:g.43057073T>A	GRCh38
NC_000017.10:g.41209090T>A , CM000679.1:g.41209090T>A	GRCh37
NC_000017.9:g.38462616T>A	NCBI36
NG_005905.2:g.160911A>T , LRG_292:g.160911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5253A>T	ENSP00000417241.2:p.Ala1751=
ENST00000470026.6:c.5256A>T	ENSP00000419274.2:p.Ala1752=
ENST00000473961.6:c.5130A>T	ENSP00000420201.2:p.Ala1710=
ENST00000476777.6:c.5250A>T	ENSP00000417554.2:p.Ala1750=
ENST00000477152.6:c.5178A>T	ENSP00000419988.2:p.Ala1726=
ENST00000478531.6:c.1944A>T	ENSP00000420412.2:p.Ala648=
ENST00000489037.2:c.5178A>T	ENSP00000420781.2:p.Ala1726=
ENST00000493919.6:c.1806A>T	ENSP00000418819.2:p.Ala602=
ENST00000494123.6:c.5256A>T	ENSP00000419103.2:p.Ala1752=
ENST00000497488.2:c.4368A>T	ENSP00000418986.2:p.Ala1456=
ENST00000618469.2:c.5256A>T	ENSP00000478114.2:p.Ala1752=
ENST00000634433.2:c.5133A>T	ENSP00000489431.2:p.Ala1711=
ENST00000644379.2:c.5322A>T	ENSP00000496570.2:p.Ala1774=
ENST00000644555.2:c.1806A>T	ENSP00000494614.2:p.Ala602=
ENST00000652672.2:c.5115A>T	ENSP00000498906.2:p.Ala1705=
ENST00000484087.6:c.1818A>T	ENSP00000419481.2:p.Ala606=
ENST00000357654.9:c.5256A>T MANE Select	ENSP00000350283.3:p.Ala1752=
ENST00000471181.7:c.5319A>T	ENSP00000418960.2:p.Ala1773=
ENST00000644379.1:c.1643A>T
ENST00000352993.7:c.1830A>T	ENSP00000312236.5:p.Ala610=
ENST00000357654.7:c.5256A>T	ENSP00000350283.3:p.Ala1752=
ENST00000461221.5:c.*5039A>T	ENSP00000418548.1:n.*5039A>T
ENST00000468300.5:c.1944A>T	ENSP00000417148.1:p.Ala648=
ENST00000471181.6:c.5319A>T	ENSP00000418960.2:p.Ala1773=
ENST00000491747.6:c.1944A>T	ENSP00000420705.2:p.Ala648=
ENST00000493795.5:c.5115A>T	ENSP00000418775.1:p.Ala1705=
ENST00000586385.5:c.186A>T	ENSP00000465818.1:p.Ala62=
ENST00000591534.5:c.729A>T	ENSP00000467329.1:p.Ala243=
ENST00000591849.5:c.-98-6883A>T	ENSP00000465347.1:n.-98-6883A>T
NM_007294.3:c.5256A>T , LRG_292t1:c.5256A>T	NP_009225.1:p.Ala1752=
NM_007297.3:c.5115A>T	NP_009228.2:p.Ala1705=
NM_007298.3:c.1944A>T	NP_009229.2:p.Ala648=
NM_007299.3:c.1944A>T	NP_009230.2:p.Ala648=
NM_007300.3:c.5319A>T	NP_009231.2:p.Ala1773=
NR_027676.1:n.5392A>T
NM_007294.4:c.5256A>T MANE Select	NP_009225.1:p.Ala1752=
NM_007297.4:c.5115A>T	NP_009228.2:p.Ala1705=
NM_007299.4:c.1944A>T	NP_009230.2:p.Ala648=
NM_007300.4:c.5319A>T	NP_009231.2:p.Ala1773=
NR_027676.2:n.5433A>T